NM_000527.4:c.2389+46C>T

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HGVS Expressions

  • NG_009060.1:g.43751C>T
  • NM_000527.4:c.2389+46C>T
  • NP_000518.1:p.?
  • NC_000019.10:g.11128131C>T

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

2738460

Clinvar

265907

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606945.GUnited Arab Emirates160.2BenignMazrooei & Mohamed 2010 11 benign polymorphisms identified in a ...
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Contributors

  • Sami Bizzari: 10.03.2022

Edit History

  • Sami Bizzari: 11.03.2022
  • Sami Bizzari: 10.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.